Variant (rsID / SNP)
rs587780871
rs587780871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,929,178. Clinical significance in the table: Likely benign.
Reference-table entries
BRCA2Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32929178
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)
- Allele change
- Synonymous_L2396L
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Breast neoplasm|Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group D1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
